A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15827708



Internal ID19553108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:4662365..4745737hg38UCSC Ensembl
chr16:4712366..4795738hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3883373
hg1983373
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4235400
Supporting Variants
Samples
Known GenesANKS3, C16orf71, MGRN1, MIR6769A, NUDT16L1
MethodSequencing
AnalysisSV calls were generated using multi-algorithm consensus pipeline involving raw evidence assessment, filtering, clustering, genotyping, alternative allele structure resolution, and gene annotation. These methods are described in detail in the gnomAD-SV preprint [Collins*, Brand*, et al., bioRxiv (2019)|https://www.biorxiv.org/content/10.1101/578674v1], and are largely based on methods developed in [Werling et al., Nat. Genet. (2018)|https://www.ncbi.nlm.nih.gov/pubmed/29700473].
Platform
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nssv15827708
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000098


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